Scientists have achieved a groundbreaking feat in personalized medicine with their new strategy called Geno-DT. They developed a ‘genotype-specific digital-twin’ approach to create virtual replicas of patients’ hearts, focusing on arrhythmogenic right ventricular cardiomyopathy (ARVC).
ARVC is a rare inherited heart disease that mostly affects young adults and can lead to life-threatening heart rhythm disorders. The disease is often associated with mutations in desmosomal genes, particularly the PKP2 gene. However, around a third of ARVC cases have unknown genetic causes, referred to as gene-elusive ARVC, often linked to intense exercise.
To improve treatment accuracy, the researchers created a digital replica of each patient’s heart using Late Gadolinium-Enhanced Magnetic Resonance Image scans and electrophysiological cell models based on the patient’s genetic information. This personalized model, Geno-DT, allowed them to predict the locations of abnormal heart rhythms (ventricular tachycardia, VT) in each patient’s heart.
The team conducted a study with 16 ARVC patients, half with PKP2 gene mutations and half with gene-elusive ARVC. Geno-DT accurately predicted VT locations in both groups, offering a non-invasive way to identify suitable sites for catheter ablation treatment, potentially increasing its effectiveness.
Interestingly, the study revealed differences in the mechanisms of VTs between the two groups. In gene-elusive ARVC, VTs were mainly induced by fibrotic remodeling (thickening or scarring of heart tissue), while in PKP2 ARVC, VTs were primarily caused by slowed electrical signal conduction and changes in cardiac tissue properties.
While the results are promising, the study’s small sample size warrants further investigation to validate the findings. Future studies could also explore other genetic causes of ARVC to assess Geno-DT’s effectiveness comprehensively.
In conclusion, the Geno-DT approach has the potential to revolutionize precision health care and personalized treatment strategies for ARVC and potentially other diseases in the future. As our understanding of genetic variations in cardiovascular diseases expands, Geno-DT could serve as a versatile framework for integrating clinical data and advancing precision health care for individual patients.